Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Maribel Sánchez-Piris"'
Autor:
David Pla-Martín, Carlos B. Rueda, Anna Estela, Maribel Sánchez-Piris, Paloma González-Sánchez, Javier Traba, Sergio de la Fuente, Luca Scorrano, Jaime Renau-Piqueras, Javier Alvarez, Jorgina Satrústegui, Francesc Palau
Publikováno v:
Neurobiology of Disease, Vol 55, Iss , Pp 140-151 (2013)
GDAP1 is an outer mitochondrial membrane protein that acts as a regulator of mitochondrial dynamics. Mutations of the GDAP1 gene cause Charcot–Marie–Tooth (CMT) neuropathy. We show that GDAP1 interacts with the vesicle-organelle trafficking prote
Externí odkaz:
https://doaj.org/article/1fe3da0bf8e947c8b7c4fab7164fe967
Autor:
Ana Cervero, Jose Antonio Martínez-Conejero, Lucía Sanz-Salvador, Claudia Gil-Sanchís, Maribel Sánchez-Piris, Laura Iñiguez Quiles
Publikováno v:
Handbook of Genetic Diagnostic Technologies in Reproductive Medicine ISBN: 9781003024941
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::309b8eb25480e17af9943f9e3eed62eb
https://doi.org/10.1201/9781003024941-16
https://doi.org/10.1201/9781003024941-16
Autor:
Jorgina Satrústegui, Anna Estela, Maribel Sánchez-Piris, David Pla-Martín, Sergio de la Fuente, Paloma González-Sánchez, Luca Scorrano, Javier Traba, Javier Alvarez, Francesc Palau, Carlos B. Rueda, Jaime Renau-Piqueras
Publikováno v:
Neurobiology of Disease, Vol 55, Iss, Pp 140-151 (2013)
GDAP1 is an outer mitochondrial membrane protein that acts as a regulator of mitochondrial dynamics. Mutations of the GDAP1 gene cause Charcot-Marie-Tooth (CMT) neuropathy. We show that GDAP1 interacts with the vesicle-organelle trafficking proteins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99ea50d933612e50f2c88d7d8994a739
http://www.sciencedirect.com/science/article/pii/S0969996113000983
http://www.sciencedirect.com/science/article/pii/S0969996113000983
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
10 páginas, 6 figuras, 2 tablas. PMID:21890626[PubMed] PMCID:PMC3196079[Available on 2012/10/21]
Mutations in the GDAP1 gene are responsible of the Charcot-Marie-Tooth CMT4A, ARCMT2K, and CMT2K variants. GDAP1 is a mitochondrial outer membrane
Mutations in the GDAP1 gene are responsible of the Charcot-Marie-Tooth CMT4A, ARCMT2K, and CMT2K variants. GDAP1 is a mitochondrial outer membrane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0adce3068d863d8221fb4060ae53a90
https://doi.org/10.1074/jbc.m111.260042
https://doi.org/10.1074/jbc.m111.260042
Autor:
Isabel Fariñas, Maribel Sánchez-Piris, Teresa Valdés-Sánchez, Steven S. Scherer, Francesc Palau, Laia Pedrola, Antonio Espert, Erich E. Sirkowski
Publikováno v:
Journal of Cellular and Molecular Medicine
Mutations in the mitochondrial protein GDAP1 are the cause of Charcot-Marie-Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated with either demyelinating, axonal or intermediate pheno-types. GDAP1 is located in the outer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a5935cec6ed68041d85800cad3ea996
http://europepmc.org/articles/PMC2570022
http://europepmc.org/articles/PMC2570022
Publikováno v:
Advances in experimental medicine and biology. 652
Mitochondrial dysfunction plays a relevant role in the pathogenesis of neurological and neuromuscular diseases. Mitochondria may be involved as a primary defect of either the mtDNA or nuclear genome encoded subunits of the respiratory chain. These or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::088e8f33fe6de1225ba0457247e86cf0
https://pubmed.ncbi.nlm.nih.gov/20225023
https://pubmed.ncbi.nlm.nih.gov/20225023
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9789048128129
Mitochondrial dysfunction plays a relevant role in the pathogenesis of neurological and neuromuscular diseases. Mitochondria may be involved as a primary defect of either the mtDNA or nuclear genome encoded subunits of the respiratory chain. These or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b857968353e7b14eebd01cbd5dd8f65f
https://doi.org/10.1007/978-90-481-2813-6_9
https://doi.org/10.1007/978-90-481-2813-6_9